PCR-BASED STUDY OF THE PRESENCE OF Y-CHROMOSOME SEQUENCES IN PATIENTSWITH ULLRICH-TURNER SYNDROME

The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS ) patients has been suggested in previous work. Karyotype analysis est imated at about 60% of patients with a 45, X constitution and molecula r analysis (Southern blot analysis with several Y chromosome probes an d PCR of specific sequences) identified the presence of Y chromosome m aterial in about 40% of 45, X patients. We have developed a very sensi tive, PCR-based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carryin g a Y sequence among 10(5) Y-negative cells. We studied 18 UTS patient s with 4 Y-specific sequences. In 11 patients we detected a positive a mplification for at least one Y sequence. The existence of a simple an d sensitive method for the detection of Y sequences has important impl ications for UTS patients, in view of the risk for some of the females carrying Y-chromosome material of developing gonadoblastoma and viril ization. Additionally, some of the UTS associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome specific sequences. (C) 1995 Wiley-Liss, Inc.